ClinVar Miner

Submissions for variant NM_001077365.2(POMT1):c.202T>C (p.Phe68Leu)

gnomAD frequency: 0.00003  dbSNP: rs138433752
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000591365 SCV000702578 uncertain significance not provided 2016-10-25 criteria provided, single submitter clinical testing
Invitae RCV002531004 SCV002966166 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2K; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1; Walker-Warburg congenital muscular dystrophy 2022-08-13 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 68 of the POMT1 protein (p.Phe68Leu). This variant is present in population databases (rs138433752, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with POMT1-related conditions. ClinVar contains an entry for this variant (Variation ID: 497850). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The leucine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Revvity Omics, Revvity Omics RCV000591365 SCV003809669 uncertain significance not provided 2019-08-06 criteria provided, single submitter clinical testing

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